ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.676_680del (p.Thr226fs)

dbSNP: rs2144318119
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001389001 SCV001590202 pathogenic Arrhythmogenic right ventricular dysplasia 10 2020-02-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DSG2 are known to be pathogenic (PMID: 23381804, 23911551). This variant has been observed to be homozygous in an individual affected with hypertrophic cardiomyopathy (PMID: 28611029). This variant is also known as c.674_678delTTACC in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr226Glyfs*40) in the DSG2 gene. It is expected to result in an absent or disrupted protein product.

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